ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.3717+2dup (rs1248401224)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669022 SCV000793718 uncertain significance Usher syndrome, type 1F 2017-08-29 criteria provided, single submitter clinical testing
Invitae RCV000808578 SCV000948690 likely pathogenic not provided 2018-10-31 criteria provided, single submitter clinical testing This sequence change falls in intron 27 of the PCDH15 gene. It does not directly change the encoded amino acid sequence of the PCDH15 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Usher syndrome (PMID: 22815625, 25404053). This variant is also known as c.3717+2dupTT in the literature. ClinVar contains an entry for this variant (Variation ID: 553548). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this splice site change change causes exon skipping (PMID: 23451239). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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